Varaico: Literature-Extracted Genetic Variants

KMT2B

949 papers

RefSeq Summary

This gene encodes a protein which contains multiple domains including a CXXC zinc finger, three PHD zinc fingers, two FY-rich domains, and a SET (suppressor of variegation, enhancer of zeste, and trit...

Pfam Domains

zf-CXXCaa 958–1005UCSCCXXC zinc finger domain

PHDaa 1252–1300UCSCPHD-finger

PHDaa 1338–1393UCSCPHD-finger

zf-HC5HC2Haa 1608–1686UCSCPHD-like zinc-binding domain

FYRNaa 1727–1783UCSCF/Y-rich N-terminus

FYRCaa 2411–2493UCSCF/Y rich C-terminus

Gene Aliases

HGNC Name

lysine methyltransferase 2B

HGNC Alias Symbols

KIAA0304; MLL2; TRX2; HRX2; WBP7; MLL1B; MLL4; CXXC10

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

9 papers

NM_014727.3

p.A1616V

c.4847C>T

Surrounding Variants

1 paper

NM_014727.3

p.A1616fs

c.4846_4847fs

7 papers

NM_014727.3

p.S1615L

c.4844C>T

1 paper

NM_014727.3

p.S1615P

c.4843T>C

1 paper

NM_014727.3

p.E1620K

c.4858G>A

1 paper

NM_014727.3

p.E1621G

c.4862A>G

1 paper

NM_014727.3

p.D1623N

c.4867G>A

1 paper

NM_014727.3

p.H1608Q

c.4824C>A

1 paper

NM_014727.3

p.H1608Q

c.4824C>G

1 paper

NM_014727.3

p.V1609del1

c.4825_4827delGTC

1 paper

NM_014727.3

p.W1606*

c.4817G>A

1 paper

NM_014727.3

p.E1605K

c.4813G>A

1 paper

NM_014727.3

p.V1629_A1631del0

c.4886_4891del6